Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thalamus morphology (HP:0010663)help
Parent Node:
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Abnormal thalamic MRI signal intensity (HP:0012696)help
..Starting node
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T2 hypointense thalamus (HP:0012690)help
Term ID: 12690
Name: T2 hypointense thalamus
Synonym:
Definition: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.
Comments:
Reference: HP:0012690
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal T2 hyperintense thalamic lesion (HP:0012692) help
..expandFocal T2 hypointense thalamic lesion (HP:0012691) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012690HP:0012690T2 hypointense thalamus0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0012690HP:0012690T2 hypointense thalamus0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0012690HP:0012690T2 hypointense thalamus0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231


Genes (3) :CLN8 FTL TREM2

Diseases (3) :ORPHA:1947 ORPHA:157846 OMIM:618193
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.